title: [A neonate with developmental retardation].
abstract: An 6-month-old boy was admitted to the hospital with hypotonia, hyperpnoeic and apnoeic episodes, and abnormal eye movements. Cranial MRI revealed prominent superior cerebellar peduncles with dysgenesis of the vermis and a deep interpeduncular fossa, resulting in the characteristic image of a 'molar tooth' malformation of the brainstem. This is a classical sign of Joubert syndrome.
authors.affiliation: Meander Medisch Centrum, Amersfoort, the Netherlands. dbloemenkamp@hotmail.com
authors.forename: Daisy G M
authors.initials: DG
authors.lastname: Bloemenkamp
authors.forename: Bwee-Tien
authors.initials: BT
authors.lastname: Poll-The
authors.forename: Charles B
authors.initials: CB
authors.lastname: Majoie
mesh_terms: D000015:Abnormalities, Multiple; D001933:Brain Stem / Q000473:pathology*; D002526:Cerebellar Diseases / Q000175:diagnosis*; D002531:Cerebellum / Q000002:abnormalities; D002658:Developmental Disabilities / Q000175:diagnosis*; D005124:Eye Abnormalities / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D012160:Retina / Q000002:abnormalities